Linked Data
ClinVar Variation Id:
25291
dbSNP Id:
rs111033790
gnomAD v3:
9-34649452-G-A
gnomAD v4:
9-34649452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649452G>A , CM000671.2:g.34649452G>A | GRCh38 |
| NC_000009.11:g.34649449G>A , CM000671.1:g.34649449G>A | GRCh37 |
| NC_000009.10:g.34639449G>A | NCBI36 |
| NG_009029.1:g.7815G>A | |
| NG_028966.1:g.2268G>A | |
| NG_009029.2:g.7864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*535G>A | ENSP00000509954.1:n.*535G>A | |
| ENST00000378842.8:c.947G>A MANE Select | ENSP00000368119.4:p.Trp316Ter | |
| ENST00000378842.7:c.947G>A | ENSP00000368119.3:p.Trp316Ter | |
| ENST00000450095.6:c.620G>A | ENSP00000401956.2:p.Trp207Ter | |
| ENST00000488412.2:n.531G>A | ||
| ENST00000489643.6:n.1355G>A | ||
| ENST00000554550.5:c.*567G>A | ENSP00000451435.1:n.*567G>A | |
| ENST00000554638.5:n.1419G>A | ||
| ENST00000555020.5:n.1736G>A | ||
| ENST00000555754.1:n.395G>A | ||
| ENST00000556278.1:c.432+996G>A | ENSP00000451792.1:n.432+996G>A | |
| ENST00000557706.5:n.1522G>A | ||
| NM_000155.3:c.947G>A | NP_000146.2:p.Trp316Ter | |
| NM_001258332.1:c.620G>A | NP_001245261.1:p.Trp207Ter | |
| NM_000155.4:c.947G>A MANE Select | NP_000146.2:p.Trp316Ter | |
| NM_001258332.2:c.620G>A | NP_001245261.1:p.Trp207Ter |